This is very clever - the X chromosome has a mechanism to shut itself down (which makes sense; otherwise cells in women would have twice as many gene products from the X chromosome as cells from men).
The linked research report[1] uses that mechanism, Xist, to shutdown chromosome 21, the extra chromosome whose presence causes Down syndrome. In its present form, it would need to be optimized for each potential patient and is unlikely to be used as a treatment paradigm, but the biological approach is clever.
What strikes me most about this is the elegance of borrowing an existing biological mechanism. The body already knows how to silence an entire chromosome — every female cell does it to one X chromosome via XIST. The insight here isn't "we invented a way to silence a chromosome" — it's "we figured out how to redirect a process that's been running in half the population for millions of years."
The 20-40% integration rate is the real bottleneck though. For a therapeutic application you'd need near-complete coverage, especially in neural tissue where the cognitive effects of trisomy 21 are most significant. Still, going from "theoretically possible" to "works in 20-40% of cell lines" is a massive leap. The gap from there to clinical viability is smaller than the gap they already crossed.
memonkey
I am slightly reminded of Gattaca, the story of which is that certain people are discriminated based on their DNA. Society is built, in general, excluding certain people due to their disabilities. Whether or not a blind person can find meaning or enjoy life has road blocks but is not impossible. Science can provide technologies to potentially improve people's lives -- cochlear implants for those with hearing loss, for example. There are ongoing philosophical discussions of whether or not these technologies and scientific discoveries are actually harming or helping those with these disabilities and the broader discussion of 'normalizing' society at large (I don't want to use the term eugenics).
JimmyBuckets
It would be interesting to understand what people with down syndrome feel about this. Would they all want what makes them unique turned off?
Most people with down syndrome live happy, fulfilling lives. A google search will show studies that show 99% are happy with their lives. E.g.
99% of people with Down syndrome were happy with their lives;
97% liked who they are;
96% liked how they looked;
99% expressed love for their families;
97% liked their brothers and sisters;
86% felt they could make friends easily.
This is very clever - the X chromosome has a mechanism to shut itself down (which makes sense; otherwise cells in women would have twice as many gene products from the X chromosome as cells from men).
The linked research report[1] uses that mechanism, Xist, to shutdown chromosome 21, the extra chromosome whose presence causes Down syndrome. In its present form, it would need to be optimized for each potential patient and is unlikely to be used as a treatment paradigm, but the biological approach is clever.
[1] https://www.pnas.org/doi/10.1073/pnas.2517953123
What strikes me most about this is the elegance of borrowing an existing biological mechanism. The body already knows how to silence an entire chromosome — every female cell does it to one X chromosome via XIST. The insight here isn't "we invented a way to silence a chromosome" — it's "we figured out how to redirect a process that's been running in half the population for millions of years."
The 20-40% integration rate is the real bottleneck though. For a therapeutic application you'd need near-complete coverage, especially in neural tissue where the cognitive effects of trisomy 21 are most significant. Still, going from "theoretically possible" to "works in 20-40% of cell lines" is a massive leap. The gap from there to clinical viability is smaller than the gap they already crossed.
I am slightly reminded of Gattaca, the story of which is that certain people are discriminated based on their DNA. Society is built, in general, excluding certain people due to their disabilities. Whether or not a blind person can find meaning or enjoy life has road blocks but is not impossible. Science can provide technologies to potentially improve people's lives -- cochlear implants for those with hearing loss, for example. There are ongoing philosophical discussions of whether or not these technologies and scientific discoveries are actually harming or helping those with these disabilities and the broader discussion of 'normalizing' society at large (I don't want to use the term eugenics).
It would be interesting to understand what people with down syndrome feel about this. Would they all want what makes them unique turned off?
Most people with down syndrome live happy, fulfilling lives. A google search will show studies that show 99% are happy with their lives. E.g.
https://www.downsyndrome.org.au/about-down-syndrome/statisti...
99% of people with Down syndrome were happy with their lives; 97% liked who they are; 96% liked how they looked; 99% expressed love for their families; 97% liked their brothers and sisters; 86% felt they could make friends easily.